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FLASH GENE

Symbol

ELP1

contributors: mct/shn - updated : 07-05-2019

HGNC name	elongator complex protein 1
HGNC id	5959

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HSAN3 , FD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in Hirschsprung disease, and association was stronger in patients carrying RET no coding sequence mutations

Susceptibility

to bronchial asthma

Variant & Polymorphism SNP	Cys1072 ser/Pro1158 Leu

Candidate gene
Marker
Therapy target	treatment of Familial dysautonomia lymphoblast cell lines with kinetin increases IKBKAP mRNA and IKAP protein to normal levels
	kinetin is capable to alter the IKBKAP splicing in the transgenic mice carrying the Familial dysautonomia BAC containing the the IVS20+6T>C splice site mutation and to correct the IKBKAP splicing in all major tissues including the brain
	System Type Disorder Pubmed dermatology     kinetin therapeutic in dysautonomia and perhaps in other splicing disorder

ANIMAL & CELL MODELS

	various RNA-interference-based depletions of IKAP lead to defective adhesion and migration in several cell types, including rat primary neurons
	in the mouse model carrying the complete human IKBKAP locus with the FD IVS20+6T-->C splice mutation, the mutant IKBKAP transgene is misspliced in this model in a tissue-specific manner that replicates the pattern seen in familial dysautonomia patient tissues
	Depletion of IKAP resulted in a significant decrease in filamin A localization in membrane ruffles and defective actin cytoskeleton organization
	mouse lines caring the human IVS20+6T>C splice site mutation in the IKBKAP gene exhibit the same tissue-specific aberrant splicing patterns as seen in Familial dysautonomia patients